4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... , sleep apnea, cor ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Causes of Hypotonic Infant (Floppy Newborn) - Differential Diagnosis Algorithm
Central Nervous System - Decreased LOC, Axial
Causes of Hypotonic ... Differential Diagnosis Algorithm ... Nervous System - Decreased ... #Causes #Peds # ... Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Passive neck flexion causes ... spinal cord movement ... While the pathophysiology ... #PhysicalExam #Pediatrics ... #Peds